Spinal cord atrophy in triple A syndrome associated with a novel compound 
heterozygous mutation.

Kunte, H.; Trendelenburg, G.; Matzen, J.; Ventz, M.; Kornak, U.; Harms, L.

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Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation.

Kunte, H., Trendelenburg, G., Matzen, J., Ventz, M., Kornak, U., & Harms, L. (2010). Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation. Neuro Endocrinology Letters, 31(3), 301-303. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/20588230.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-7BB7-B Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-7BB8-9

Genre: Journal Article

Alternative Title : Neuro Endocrinol Lett

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Creators:
Kunte, H., Author
Trendelenburg, G., Author
Matzen, J., Author
Ventz, M., Author
Kornak, U.¹, Author
Harms, L., Author

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1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557

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Abstract: A 38-year-old male patient was admitted with slowly progressive spastic gait disturbance. Imaging revealed general spinal cord atrophy. Because of adrenal insufficiency, alacrima and achalasia, triple A syndrome was suspected. This is a case report of a triple A syndrome patient with a predominance of neurological features and a new heterozygous compound mutation in triple A syndrome gene.

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Language(s): eng - English

Dates: Date issued: 2010-03-01

Publication Status: Issued

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Identifiers: eDoc: 541923
URI: http://www.ncbi.nlm.nih.gov/pubmed/20588230

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Title: Neuro Endocrinology Letters

Alternative Title : Neuro Endocrinol Lett

Source Genre: Journal

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Pages: - Volume / Issue: 31 (3) Sequence Number: - Start / End Page: 301 - 303 Identifier: ISSN: 0172-780X